Detroit Medical Center-Wayne State University Neurology Chief Resident Marissa Dean, M.D., a 2012 graduate of the WSU School of Medicine, presented the results of a groundbreaking study examining retinal biology in patients with Huntington’s disease at the recently concluded American Academy of Neurology’s 68th annual meeting, held in Vancouver.

Using 3D-Optical Coherence Tomography, WSU neurologists performed macular segmentation in patients with Huntington’s disease and in age-matched healthy control patients. The results showed that several individual layers of the retina were thicker in patients with the disease than in the age-matched controls, most notably in the layers where mutant protein is known to cause transcriptional dysregulation.

“This is the first in-vivo study in Huntington’s disease demonstrating localization of mutant Huntingtin protein in the retina, and opens up a huge area of investigation in developing biomarkers in Huntington’s disease,” said Omar Khan, M.D., professor and chair of the WSU Department of Neurology, the study’s principal investigator. “Translational research in neurodegenerative disorders is a key area of focus in our department. Our residents regularly participate in research, which is exemplified by the dedication and commitment of Dr. Dean, who is committed to a career in movement disorders.”

Navid Seraji-Bozorgzad, M.D., assistant professor of Neurology and the department’s residency director, who was the study co-principal investigator, said “Dr. Dean’s presentation at the meeting was one of 15 platform presentations made by a neurology resident at the world’s largest neurology meeting, attended by more than 15,000 neurologists from all over the world. This speaks volumes to the quality of our trainees and preparing the next generation of clinician-scientists.”

Huntington’s disease is a uniformly fatal neurodegenerative disorder caused by polyglutamine expansions in the Huntingtin protein. The condition eventually leads to symptoms affecting muscle coordination, and resulting in abnormal movements and mental decline. Almost 30,000 Americans are diagnosed with Huntington’s disease and another 200,000 are considered at risk. Symptoms typically appear between the ages of 30 and 50, and progressively worsen during a period of 10 to 20 years.

The Department of Neurology is undertaking a new study led by co-principal investigators Dr. Khan and Dr. Seraji-Bozorgzad to investigate MRI-PET biomarkers in Huntington’s disease. They anticipate initiating clinical trials adopting an “antisense oligonucleotide” approach to silence the mutant gene.

“Our goal is to have a premier clinical and translational research center at Wayne State University in neurodegenerative disorders, and our work in Huntington’s disease is a step in that direction,” Dr. Khan said.